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- NCIT_C84764 IAO_0000115 "A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism." @default.
- NCIT_C84764 NCIT_NHC0 "C84764" @default.
- NCIT_C84764 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84764 NCIT_P108 "HFE-Associated Hereditary Hemochromatosis" @default.
- NCIT_C84764 NCIT_P207 "C2827503" @default.
- NCIT_C84764 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84764 NCIT_R176 NCIT_C124875 @default.
- NCIT_C84764 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84764 NCIT_R176 NCIT_C20194 @default.
- NCIT_C84764 normalizedInformationContent "100" @default.
- NCIT_C84764 referenceCount "1" @default.
- NCIT_C84764 hasExactSynonym "HFE-Associated Hereditary Hemochromatosis" @default.
- NCIT_C84764 inSubset NCIT_C165258 @default.
- NCIT_C84764 inSubset NCIT_C192842 @default.
- NCIT_C84764 type Class @default.
- NCIT_C84764 isDefinedBy ncit.owl @default.
- NCIT_C84764 label "HFE-Associated Hereditary Hemochromatosis" @default.
- NCIT_C84764 subClassOf B7ab446065aec60ac0a3ee645b971c899 @default.
- NCIT_C84764 subClassOf B7e2731cdcb4f43b3a59fb056931fc523 @default.
- NCIT_C84764 subClassOf NCIT_C2991 @default.
- NCIT_C84764 subClassOf NCIT_C3235 @default.
- NCIT_C84764 subClassOf NCIT_C4873 @default.
- NCIT_C84764 subClassOf NCIT_C53529 @default.
- NCIT_C84764 subClassOf NCIT_C53543 @default.
- NCIT_C84764 subClassOf NCIT_C53547 @default.
- NCIT_C84764 subClassOf NCIT_C7057 @default.
- NCIT_C84764 subClassOf NCIT_C82892 @default.
- NCIT_C84764 subClassOf NCIT_C84481 @default.
- NCIT_C84764 subClassOf NCIT_C84764 @default.